Article
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits.
Nature genetics - 1 Jul 2018
Hormozdiari Farhad, Gazal Steven, van de Geijn Bryce, Finucane Hilary K, Ju Chelsea J-T, Loh Po-Ru, Schoech Armin, Reshef Yakir, Liu Xuanyao, O'Connor Luke, Gusev Alexander, Eskin Eleazar, Price Alkes L
Abstract excerpt
There is increasing evidence that many risk loci found using genome-wide association studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional annotations based on causal posterior probabilities of fine-mapped molecular cis-QTLs, using data from the Genotype-Tissue Expression (GTEx) and BLUEPRINT consortia. We show that these annotations are more strongly enriched for...
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